Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1141811
rs1141811
GBA
1.000 0.120 1 155239948 missense variant G/A snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs1178732315
rs1178732315
GBA
0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs1376479747
rs1376479747
GBA
1.000 0.120 1 155238200 missense variant C/T snv 1.4E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs147138516
rs147138516
GBA
0.925 0.120 1 155238570 missense variant C/G;T snv 1.4E-04; 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs149487315
rs149487315
GBA
1.000 0.120 1 155236269 missense variant C/T snv 2.7E-04 8.9E-04
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs374591570
rs374591570
GBA
1.000 0.120 1 155238258 missense variant G/A snv 4.1E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs377325220
rs377325220
GBA
1.000 0.120 1 155238621 missense variant T/C snv 8.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs381418
rs381418
GBA
0.851 0.120 1 155238214 missense variant A/C snv 1.2E-05 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs381427
rs381427
GBA
1.000 0.120 1 155238206 missense variant A/C;T snv 1.2E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs398123526
rs398123526
GBA
0.925 0.120 1 155236409 missense variant C/G;T snv 1.2E-05; 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs398123527
rs398123527
GBA
0.827 0.120 1 155236298 missense variant C/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs398123528
rs398123528
GBA
1.000 0.120 1 155235829 missense variant C/A;G snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs398123530
rs398123530
GBA
0.851 0.120 1 155238597 missense variant G/A snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs398123532
rs398123532
GBA
0.827 0.120 1 155238270 missense variant G/A snv 1.3E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs409652
rs409652
GBA
0.827 0.120 1 155238174 missense variant C/T snv 3.2E-05 2.1E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.800 0
dbSNP: rs439898
rs439898
GBA
0.882 0.120 1 155238630 missense variant G/A snv 2.8E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs74731340
rs74731340
GBA
1.000 0.120 1 155237411 missense variant C/T snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs74752878
rs74752878
GBA
1.000 0.120 1 155235699 missense variant T/C snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs749416070
rs749416070
GBA
1.000 0.120 1 155238269 missense variant C/G;T snv 4.3E-05
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs75243000
rs75243000
GBA
1.000 0.120 1 155235762 missense variant A/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs75385858
rs75385858
GBA
1.000 0.120 1 155235765 missense variant T/G snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs76026102
rs76026102
GBA
1.000 0.120 1 155238164 missense variant T/C snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs76725886
rs76725886
GBA
0.925 0.120 1 155237531 missense variant G/A;C snv 4.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs773409311
rs773409311
GBA
0.925 0.120 1 155238186 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0
dbSNP: rs77714449
rs77714449
GBA
1.000 0.120 1 155236444 missense variant T/A snv
CUI: C1961835
Disease: Gaucher Disease, Type 1
Gaucher Disease, Type 1
0.700 0